Course summary

Explore human genetics and develop an understanding of how human genetic diseases are diagnosed clinically at the chromosome and DNA levels. Course description Designed in collaboration with the NHS: Sheffield Diagnostic Genetics Service, this course is for students who are fascinated by medical genetics. Through theoretical and hands-on practical skills training, you’ll explore human genetics and develop an understanding of how human genetic diseases are diagnosed clinically at the chromosome and DNA levels. You’ll also have opportunities to explore the wider implications of genetics in fields such as genomics, human fertility, stem cells and cancer biology through your lectures and NHS placement opportunities. Practical laboratory experience is at the heart of our teaching, with more than half of your MSc taking place in the lab. Here you’ll complete training modules covering a wide range of exciting modern laboratory techniques. You'll learn core skills such as molecular cloning, microorganism handling, DNA sequence analysis, PCR, SDS-PAGE, western blotting and CRISPR, before completing competence-based training in specialist techniques such as human cell culture, cytogenetics, fluorescence microscopy and qPCR. Clinical research projects and NHS placements The biggest part of your course is the research project, where you’ll have the opportunity to work alongside NHS scientists and academics. Here, you’ll spend up to five months applying your new knowledge and extensive practical skills to the study and diagnosis of human genetic diseases. This is possible thanks to our Julia Garnham Centre, an NHS-badged genomics facility right here in the school, that’s partnered with the Sheffield Children's NHS Foundation Trust. After extensive training, you’ll complete a placement under the supervision of NHS Geneticists from the Trust to support the NHS in dealing with cancer and rare disease backlogs. You’ll also generate real data which will form the foundation of your MSc clinical research project in the laboratory. Examples of previous research projects include:

• Reducing diagnostic uncertainty through historic variant reclassification and high-throughput screening for nonsense-mediated decay.

• FLT3 screening of MDS backlogs to identify patients at greatest risk of progression

• Hunting new pathogenic variants underpinning rare respiratory diseases

• Genomic haemato-oncology diagnostics: Improving patient outcomes for the Myelodysplastic Syndromes (MDS)